Mutagenetix > Incidental Mutation

Incidental Mutation 'R7342:Gosr1'

569950

Institutional Source

Beutler Lab

Gene Symbol

Gosr1

Ensembl Gene

ENSMUSG00000010392

Gene Name

golgi SNAP receptor complex member 1

Synonyms

GOS-28, Cis-Golgi SNARE, GS28

MMRRC Submission

045432-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7342 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76617428-76654404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76621033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 219 (I219V)

Ref Sequence

ENSEMBL: ENSMUSP00000010536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010536]

AlphaFold

O88630

Predicted Effect

probably benign
Transcript: ENSMUST00000010536
AA Change: I219V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392
AA Change: I219V

Domain	Start	End	E-Value	Type
Pfam:V-SNARE_C	161	226	1.9e-25	PFAM
transmembrane domain	230	249	N/A	INTRINSIC

Meta Mutation Damage Score

0.1554

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	G	11: 101,308,018 (GRCm39)	T28P	probably benign	Het
Abcc1	C	A	16: 14,283,033 (GRCm39)	R1170S	probably damaging	Het
Adam8	T	C	7: 139,566,304 (GRCm39)	N568S	probably benign	Het
Arhgap17	T	C	7: 122,926,467 (GRCm39)	R65G	probably damaging	Het
Arid4b	A	C	13: 14,310,804 (GRCm39)	I136L	probably benign	Het
Ash1l	G	T	3: 88,873,304 (GRCm39)	G29V	possibly damaging	Het
Atp6v0a2	A	G	5: 124,784,676 (GRCm39)	T320A	probably damaging	Het
B4gat1	G	A	19: 5,089,686 (GRCm39)	V228M	probably benign	Het
Calcr	T	A	6: 3,691,536 (GRCm39)	H450L	probably benign	Het
Cand1	A	T	10: 119,047,692 (GRCm39)	N599K	possibly damaging	Het
Cblif	A	T	19: 11,740,587 (GRCm39)	H407L	probably benign	Het
Cel	A	T	2: 28,450,649 (GRCm39)	Y125*	probably null	Het
Cfi	T	A	3: 129,668,781 (GRCm39)	N602K	probably damaging	Het
Clstn1	G	A	4: 149,713,887 (GRCm39)	A190T	probably damaging	Het
Cmklr1	C	T	5: 113,752,354 (GRCm39)	V216M	probably benign	Het
Cntnap5a	A	G	1: 115,987,852 (GRCm39)	T128A	probably benign	Het
Creld2	A	G	15: 88,710,610 (GRCm39)	T342A	probably benign	Het
Ctbp2	T	C	7: 132,616,041 (GRCm39)	E298G	probably damaging	Het
Ctsh	A	T	9: 89,957,040 (GRCm39)	E307V	probably benign	Het
Cxcl10	T	A	5: 92,496,029 (GRCm39)	D36V	probably benign	Het
Dgkb	A	G	12: 38,150,432 (GRCm39)	T73A	probably benign	Het
Dnah3	T	G	7: 119,629,208 (GRCm39)	E1449A	probably damaging	Het
Dpp6	T	C	5: 27,919,552 (GRCm39)	M683T	probably benign	Het
Foxn4	C	A	5: 114,396,760 (GRCm39)	W241L	probably damaging	Het
Gtf2f2	T	C	14: 76,144,317 (GRCm39)	D179G	probably damaging	Het
Ighg2b	A	G	12: 113,270,050 (GRCm39)	Y323H		Het
Itpr2	A	T	6: 146,228,685 (GRCm39)	H1303Q	probably damaging	Het
Kif1b	A	C	4: 149,298,547 (GRCm39)	Y1040D	possibly damaging	Het
Lbr	C	T	1: 181,653,186 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,309,634 (GRCm39)	V2755A	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrcc1	T	A	3: 14,619,431 (GRCm39)	C606S	probably benign	Het
Macf1	T	C	4: 123,275,917 (GRCm39)	E6217G	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo9b	T	C	8: 71,808,418 (GRCm39)	V1687A	probably damaging	Het
Naip2	A	T	13: 100,325,864 (GRCm39)	F15I	probably benign	Het
Neb	A	T	2: 52,171,679 (GRCm39)	S1605T	probably damaging	Het
Nuak1	T	C	10: 84,210,831 (GRCm39)	E419G	probably damaging	Het
Or14a260	G	A	7: 85,985,295 (GRCm39)	T103I	probably benign	Het
Or8c18	A	G	9: 38,203,574 (GRCm39)	Y111C	probably damaging	Het
Paip2b	T	A	6: 83,791,808 (GRCm39)	S25C	probably damaging	Het
Pgbd5	G	A	8: 125,160,709 (GRCm39)	R53C	probably benign	Het
Plin4	T	C	17: 56,411,608 (GRCm39)	T808A	probably benign	Het
Pramel11	A	T	4: 143,623,520 (GRCm39)	I218K	probably benign	Het
Prex2	A	G	1: 11,232,549 (GRCm39)	D872G	probably benign	Het
Ptf1a	A	G	2: 19,451,977 (GRCm39)	*325W	probably null	Het
Ptprg	T	C	14: 12,237,151 (GRCm38)	V1390A	possibly damaging	Het
Rhpn2	A	G	7: 35,033,771 (GRCm39)	T2A	probably damaging	Het
Rpl18a	T	C	8: 71,348,042 (GRCm39)	N214D	unknown	Het
Scp2	T	A	4: 107,948,518 (GRCm39)	Y197F	probably benign	Het
Sftpb	G	A	6: 72,286,858 (GRCm39)	R254H	probably benign	Het
Slc17a9	T	C	2: 180,378,555 (GRCm39)	L246P	probably damaging	Het
Slc38a9	G	T	13: 112,806,125 (GRCm39)		probably benign	Het
Slc4a1ap	C	T	5: 31,693,634 (GRCm39)	L523F	possibly damaging	Het
Spats2l	C	A	1: 57,925,106 (GRCm39)	T168K	possibly damaging	Het
Sstr1	A	G	12: 58,260,456 (GRCm39)	S360G	possibly damaging	Het
Taf1b	A	T	12: 24,608,343 (GRCm39)	K581*	probably null	Het
Tfip11	T	A	5: 112,475,838 (GRCm39)	M1K	probably null	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Ttc23l	G	A	15: 10,551,583 (GRCm39)	H48Y	probably benign	Het
Uggt2	T	A	14: 119,232,384 (GRCm39)	H1489L	possibly damaging	Het
Unc13b	T	C	4: 43,258,703 (GRCm39)	L1346P	probably damaging	Het
Vmac	T	C	17: 57,022,644 (GRCm39)	E122G	probably benign	Het
Vmn2r125	T	C	4: 156,703,138 (GRCm39)	V172A	probably damaging	Het
Zfp54	A	G	17: 21,648,014 (GRCm39)		probably benign	Het

Other mutations in Gosr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01713:Gosr1	APN	11	76,645,582 (GRCm39)	missense	probably benign	0.34
IGL02640:Gosr1	APN	11	76,645,603 (GRCm39)	missense	probably benign	0.01
IGL02686:Gosr1	APN	11	76,641,688 (GRCm39)	missense	probably benign	0.00
IGL02939:Gosr1	APN	11	76,641,732 (GRCm39)	splice site	probably benign
IGL03325:Gosr1	APN	11	76,645,229 (GRCm39)	missense	probably benign	0.04
R0743:Gosr1	UTSW	11	76,620,972 (GRCm39)	missense	probably benign
R0884:Gosr1	UTSW	11	76,620,972 (GRCm39)	missense	probably benign
R1712:Gosr1	UTSW	11	76,641,704 (GRCm39)	missense	possibly damaging	0.58
R2064:Gosr1	UTSW	11	76,628,224 (GRCm39)	missense	probably benign	0.00
R4403:Gosr1	UTSW	11	76,645,561 (GRCm39)	missense	possibly damaging	0.77
R4919:Gosr1	UTSW	11	76,625,392 (GRCm39)	splice site	probably null
R7507:Gosr1	UTSW	11	76,645,240 (GRCm39)	missense	probably benign	0.14
R8385:Gosr1	UTSW	11	76,620,967 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGAGCCACAGGTGCAGTTTG -3'
(R):5'- AGATGGGAATGCAGGTTGCTC -3'

Sequencing Primer
(F):5'- CACAGGTGCAGTTTGGAATCCATC -3'
(R):5'- GAATGCAGGTTGCTCCTTTC -3'

Posted On

2019-09-13